Nanopore DNA Sequencing Detected Chromothripsis‐Induced PAFAH1B1::USP6 Rearrangement in Periosteal Solid Aneurysmal Bone Cyst Initially Diagnosed as Osteosarcoma
Naohiro Makise,
Jason Lin,
Hajime Kageyama
et al.
Abstract:An aneurysmal bone cyst (ABC) is a benign bone neoplasm that typically occurs during the first and second decades of life. ABC usually presents as a rapidly growing intramedullary expansile mass with multiple blood‐filled cysts in the metaphysis of the long tubular bones. Here, we report a case of a periosteal solid ABC that was initially diagnosed as a high‐grade surface osteosarcoma. A 10‐year‐old male was referred to our hospital for swelling and tenderness of the left upper arm. Radiography revealed perios… Show more
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